scholarly journals The Potency of ∆F 508-T Gen Mutant the Coding of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) As Prototype at the Congenital Bilateral Absence of Vas Deferens (CBAVD) Disease in Indonesia

2017 ◽  
Vol 3 (6) ◽  
pp. 139
Author(s):  
Maslichah Mafruchati ◽  
Mas’ud Harijadi ◽  
Widjiati Widjiati ◽  
Boerhan Hidayat
Keyword(s):  
Birth Defect ◽  
Congenital Defect ◽  
Congenital Defects ◽  
Prenatal Period ◽  
Gene Target ◽  
Optimal Output ◽  
Bilateral Absence ◽  
The World ◽  
Congenital Condition ◽  
Genetic Anomaly

Birth defect (congenital defect / congenital condition) is an anomaly appearing at birth and able to cause the physical or mental defect or death. Birth defect generally can be detected during the prenatal period. However, if this cannot be detected during the prenatal period, it can be identified at the post natal examination. Congenital Bilateral Absence Vas Difference (CBAVD) is of one the congenital defects characterized by Azoospermia causing the occurrence of infertility. This congenital defect can bring impact to the structural, functional and metabolism anomalies. Approximately 7.9 million children in the world (about 6% of the whole anomalies in the world) were born with serious congenital defects every year due to genetic anomaly or other post-conception. The determination of optimal output from PCR optimization to obtain the location of ∆F 508-T mutant on CBAVD patients in Indonesia is conducted pursuant to the gene target. The conclution were influence of various factors as the indicator specifying the mutation of ∆F 508-T mutant needs to be considered in making a decision for the preliminary research on CBAVD in Indonesia.

Prevalence of Neural Tube Defects (NTDs) In And Around Varanasi Region: Some Observations

2021 ◽  
Author(s):  
Vaibhav Pandey ◽  
Surendra Kumar Pandey ◽  
Praveen Kumar Tiwari ◽  
Pragati Shakya ◽  
Shashank Shekhar Jha ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Birth Defect ◽  
Neural Tube Closure ◽  
The World ◽  
Typical Type ◽  
Males And Females ◽  
One Year ◽  
Congenital Disabilities ◽  
Tube Closure

Abstract Congenital anomalies are one of the primary causes of infant mortality and disability in the world. Neural Tube Defects (NTDs) are the most typical type of birth defect resulting from the failure of Neural tube closure. In this retrospective hospital-based study, the data of the children affected byneural tube defects (NTDs) were analyzed. Prevalence of Hydrocephalous, Myelomeningocele (MMC), Encephalocele, Lipo MMC, Meningocele, Spina Bifida Occulta among children with more or less than one year of age and their occurrence in males and females was studied. The frequency of occurrence of cases of neural tube defects was significantly less among all the congenital disabilities, i.e., 5% of total cases studied. The prevalence of myelomeningocele, hydrocephalous, and Encephalocele was higher than other types of NTDs. This study concludes that the prevalence of hydrocephalous and myelomeningocele in this area raises a concern to have more research of their etiology.

scholarly journals HYPERTROPHIC CARDIOMYOPATHY WITH PARTIAL ANOMALOUS PULMONARY VENOUS CONNECTION AND ATRIAL SEPTAL DEFECT: A RARE PRESENTATION

2017 ◽  
Vol 10 (8) ◽  
pp. 5
Author(s):  
Alphonsa M ◽  
Karthik R ◽  
Satish C Gowda ◽  
Navin Patil ◽  
Balaji O ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Medical Literature ◽  
Congenital Defect ◽  
Congenital Defects ◽  
Clinical Expression ◽  
Rare Presentation ◽  
Anomalous Pulmonary Venous Connection

Hypertrophic cardiomyopathy (HOCM) is characterized by heterogeneous clinical expression, unique pathophysiology, and diverse natural history.Coexistence of arterial septal defect and partial anomalous pulmonary venous connection (PAPVC) is very rare. Since HOCM is a congenital defect,coexistence of other congenital defects should be kept in mind when we treat the patients. Only very few cases of HOCM with coexisting congenitalanomalies have been reported so far in medical literature. Hence, we report a case of HOCM with atrial septal defect and PAPVC in a 49-year-old malepatient.

scholarly journals BDdb: a comprehensive platform for exploration and utilization of birth defect multi-omics data

2020 ◽  
Author(s):  
Dengwei Zhang ◽  
Hai-Xi Sun ◽  
Ziheng Zhou ◽  
Xiaosen Jiang ◽  
Dongsheng Chen ◽  
...  
Keyword(s):  
Birth Defects ◽  
Birth Defect ◽  
High Throughput Sequencing ◽  
Infant Health ◽  
Data Sets ◽  
Omics Data ◽  
Related Data ◽  
Circulating Free Dna ◽  
The World ◽  
Next Generation Sequencing Ngs

ABSTRACTBirth defect, not only poses a major challenge for infant health but also attracts the attention of countless people in the world. Chromosome abnormality directly results in diverse birth defects which are generally deleterious and even lethal. Therefore, gaining molecular regulatory insights into these diseases is important and necessary for effective prenatal screening. Recently, with the advance of next-generation sequencing (NGS) techniques, a myriad of treatises and data associated with these diseases are now constantly produced from different laboratories across the world. To meet the increasing requirements for birth-related data resources, we developed a birth defect multi-omics database (BDdb), freely accessible at http://t21omics.cngb.org and consisting of multi-omics data, circulating free DNA (cfDNA) data, as well as diseases biomarkers. Omics data sets from 138 GSE samples, 5271 GSM samples and 328 entries, and more than 2000 biomarkers of 22 birth-defect diseases in 5 different species were integrated into BDdb, which provides a user-friendly interface for searching, browsing and downloading selected data. Additionally, we re-analyzed and normalized the raw data so that users can also customize the analysis using the data generated from different sources or different High-Throughput Sequencing (HTS) methods. To our knowledge, BDdb is the first comprehensive database associated with birth-defect-related diseases. which would benefit the diagnosis and prevention of birth defects.

scholarly journals Multiplex qPCR discriminates variants of concern to enhance global surveillance of SARS-CoV-2

PLoS Biology ◽  
2021 ◽  
Vol 19 (5) ◽  
pp. e3001236
Author(s):  
Chantal B. F. Vogels ◽  
Mallery I. Breban ◽  
Isabel M. Ott ◽  
Tara Alpert ◽  
Mary E. Petrone ◽  
...  
Keyword(s):  
South Africa ◽  
United Kingdom ◽  
Severe Acute Respiratory Syndrome ◽  
Immune Responses ◽  
Primary Target ◽  
Pcr Assay ◽  
Gene Target ◽  
Spike Gene ◽  
The United Kingdom ◽  
The World

With the emergence of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) variants that may increase transmissibility and/or cause escape from immune responses, there is an urgent need for the targeted surveillance of circulating lineages. It was found that the B.1.1.7 (also 501Y.V1) variant, first detected in the United Kingdom, could be serendipitously detected by the Thermo Fisher TaqPath Coronavirus Disease 2019 (COVID-19) PCR assay because a key deletion in these viruses, spike Δ69–70, would cause a “spike gene target failure” (SGTF) result. However, a SGTF result is not definitive for B.1.1.7, and this assay cannot detect other variants of concern (VOC) that lack spike Δ69–70, such as B.1.351 (also 501Y.V2), detected in South Africa, and P.1 (also 501Y.V3), recently detected in Brazil. We identified a deletion in the ORF1a gene (ORF1a Δ3675–3677) in all 3 variants, which has not yet been widely detected in other SARS-CoV-2 lineages. Using ORF1a Δ3675–3677 as the primary target and spike Δ69–70 to differentiate, we designed and validated an open-source PCR assay to detect SARS-CoV-2 VOC. Our assay can be rapidly deployed in laboratories around the world to enhance surveillance for the local emergence and spread of B.1.1.7, B.1.351, and P.1.

scholarly journals Optimizing SARS-CoV-2 molecular diagnostic using N gene target: insights about reinfection

2020 ◽  
Author(s):  
Raphael Contelli Klein ◽  
Mary Hellen Fabres Klein ◽  
Larissa Gomes Barbosa ◽  
Lívia Vasconcelos Gonzaga Knnup ◽  
Larissa Paola Rodrigues Venâncio ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Molecular Diagnostic ◽  
N Gene ◽  
Molecular Test ◽  
Gene Target ◽  
Infected People ◽  
Remote Locations ◽  
The World ◽  
The Cost ◽  
Huge Challenge

AbstractIntroductionMolecular diagnosis of SARS-CoV-2 is a huge challenge to many countries around the world. The cost of tests to check infected people is inaccessible since specialized teams and equipment are not disposable in remote locations. Herein, we compared the fitness of two primers sets to the SARS-CoV-2 N gene in the molecular diagnosis of COVID-19.Materials and MethodsThe 1029 patient samples were tested to presense/abscence molecular test using in house US CDC protocol. We compared the fitness of two primers sets to two different regions of N gene targets.ResultsBoth targets, N1 and N2 displayed similar fitness during testing with no differences between Ct or measurable viral genome copies. In addition, we verified security ranges Cts related to positive diagnostic with Ct above 35 value failuring in 66,6% after retesting of samples.Main conclusionOur data suggest that it is secure to use just one primer set to the N gene to identify SARS-CoV-2 in samples and the labs should be careful to set positive samples in high Ct values using high cutoffs.

Suspended Mothering: Women’s Experiences Mothering an Infant with a Genetic Anomaly Identified at Birth

1999 ◽  
Vol 18 (5) ◽  
pp. 35-39 ◽  
Author(s):  
Deborah Raines
Keyword(s):  
Decision Making ◽  
Qualitative Methods ◽  
Outcome Variable ◽  
Prenatal Period ◽  
Maternal Involvement ◽  
Practice Recommendations ◽  
Physical Attributes ◽  
Main Outcome Variable ◽  
Genetic Anomaly ◽  
Experiences Of Women

Purpose: To develop an understanding of the experiences of women who give birth to an infant with a genetic anomaly not identified during the prenatal period.Design: Exploratory design using selected qualitative methods.Sample: Seven mothers of liveborn infants with a genetic anomaly characterized by physical attributes evident at birth.Main Outcome Variable: Mother’s expressions of suspended mothering.Results: Two themes emerged that characterize the experience of suspended mothering: diminished maternal role and false protection.Practice Recommendations: Facilitating maternal involvement in decision making requires giving women unbiased information in a supportive manner.

scholarly journals The current state of birth outcome and birth defect surveillance in northern regions of the world

2009 ◽  
Vol 68 (5) ◽  
pp. 443-458 ◽  
Author(s):  
Laura Arbour ◽  
Vladimir Melnikov ◽  
Sarah McIntosh ◽  
Britta Olsen ◽  
Geraldine Osborne ◽  
...  
Keyword(s):  
Birth Defect ◽  
Birth Outcome ◽  
Current State ◽  
The World ◽  
Northern Regions

scholarly journals PECULIARITIES OF THE MORPHOMETRIC PARAMETERS OF SUPRAHYOID REGION OF THE HUMAN PREFETUSES

2021 ◽  
Vol 74 (2) ◽  
pp. 291-294
Author(s):  
Olexandr V. Tsyhykalo ◽  
Nataliia B. Kuzniak ◽  
Pavlo P. Perebyjnis ◽  
Svitlana I. Boitsaniuk ◽  
Iryna Ya. Tsvyntarna ◽  
...  
Keyword(s):  
Growth Rate ◽  
Critical Period ◽  
Morphometric Parameters ◽  
Congenital Defects ◽  
Sharp Change ◽  
Prenatal Period ◽  
Growth Processes ◽  
Anterior Angle ◽  
Intensive Growth ◽  
Lateral Length

The aim: To determine the peculiarities of the morphometric parameters of suprahyoid region of the human prefetuses. Materials and methods: Thirty specimens of human prefetuses of 14.0-80.0 mm parietococcygeal length (PCL) (7-12 weeks of IUD) were studied using a complex of modern methods of morphological research. Results: On the basis of obtained digital indicators of the main morphometric parameters of human SHR in the dynamics of the prenatal period of IUD the critical periods of development of the region were clarified and mathematical functions that describe the normal course of organogenesis of SHR were created, which can be useful for creating diagnostic algorithms for the norm when carrying out prenatal diagnostics and monitoring the state of the fetus. It has been established that the 9-10th week of IUD is a critical period in the development of SHR, since during this time, intensive growth processes occur, which are manifested by a sharp change in the size of the organ, and this can lead to the appearance of variants of the structure and possible congenital defects of the SHR and the dental-maxillary apparatus in general. Conclusions: 1.Age-depended dynamics of changes in the anterior angle of the SHR shows an almost linear decrease in the angle by the end of the 9th week of IUD almost to 76°, after which it increases to almost 90° by the end of the 10th week. From the 11th week of the IUD, the anterior angle decreases again to 77 °, but begins to increase at the 12th week and by the end of the prefeal period. 2.The lateral length of SHR increases almost uniformly until the 9th week of IUD, during which its growth rate slows down. Starting from the end of the 10th week of IUD, this morphometric parameter begins to grow rapidly until the end of the prenatal period of ontogenesis. The growth rate of the lateral length of the SHR is described by the function: L lat = 1.1025 + 0.0015 x + 0.001 x2. 3.The width of the SHR from the 10th week of IUD begins to grow rapidly until the end of the prenatal period of development. The growth rate of the width of SHR is described by the function: W = 1.1025 + 0.0015 x + 0.001 x2. 4.Analysis of the age dynamics of the area of SHR demonstrates the exponential dependence on the age of the prefetuses, which is described by a mathematical function: A = 1,2452exp(0,0424x). Meanwhile, there is a slight slowdown in its growth rate at the 10th week of IUD with subsequent recovery of growth by the end of the prenatal period of ontogenesis. 5.The 9-10th week of IUD is a critical period in the development of SHR, since during this time, intensive growth processes occur, which are manifested by a sharp change in the size of the mandible.

scholarly journals PCR assay to enhance global surveillance for SARS-CoV-2 variants of concern

2021 ◽  
Author(s):  
Chantal B.F. Vogels ◽  
Mallery Breban ◽  
Tara Alpert ◽  
Mary E. Petrone ◽  
Anne E. Watkins ◽  
...  
Keyword(s):  
South Africa ◽  
Immune Responses ◽  
Open Source ◽  
Primary Target ◽  
Pcr Assay ◽  
Gene Target ◽  
Spike Gene ◽  
The World ◽  
The Uk

AbstractWith the emergence of SARS-CoV-2 variants that may increase transmissibility and/or cause escape from immune responses1–3, there is an urgent need for the targeted surveillance of circulating lineages. It was found that the B.1.1.7 (also 501Y.V1) variant first detected in the UK4,5 could be serendipitously detected by the ThermoFisher TaqPath COVID-19 PCR assay because a key deletion in these viruses, spike Δ69-70, would cause a “spike gene target failure” (SGTF) result. However, a SGTF result is not definitive for B.1.1.7, and this assay cannot detect other variants of concern that lack spike Δ69-70, such as B.1.351 (also 501Y.V2) detected in South Africa6 and P.1 (also 501Y.V3) recently detected in Brazil7. We identified a deletion in the ORF1a gene (ORF1a Δ3675-3677) in all three variants, which has not yet been widely detected in other SARS-CoV-2 lineages. Using ORF1a Δ3675-3677 as the primary target and spike Δ69-70 to differentiate, we designed and validated an open source PCR assay to detect SARS-CoV-2 variants of concern8. Our assay can be rapidly deployed in laboratories around the world to enhance surveillance for the local emergence spread of B.1.1.7, B.1.351, and P.1.

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